Results 91 to 100 of about 1,438,452 (291)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Inflammatory Myofibroblastic Tumor Invading the Left Atrium: Report of A Rare Case

Journal of Tehran University Heart Center, 2018
Inflammatory myofibroblastic tumors (IMTs) of the lung are rare solid tumors and usually affect children and young adults. We describe an unusual form of an IMT of the left lower lobe invading the left atrium.
Hikmet Sahratov, Adem Guler, Mustafa Kurkluoglu, Bahadır Calişkan, Fahri Gurkan Yesil, Murat Tavlasoglu, Mehmet Ali Sahin   +6 more
doaj  

Production of Fibrillation in Isolated Atria of Rabbit Heart [PDF]

BMJ, 1957
W C, HOLLAND, J H, BURN
openaire   +2 more sources

THE DISORDER OF DIASTOLIC FUNCTION OF HEART UNDER FIBRILLATION OF ATRIA

Medical Journal of the Russian Federation, 2017
In spite of significant increasing of number of patients with disorders of diastolic function of heart and fibrillation of atria, understanding of mechanisms of their development and modes of treatment is still to be reached. The present review presents Actual view of the role of diastolic dysfunction of heart in development and progression of ...
A. M Baymukhanov, I. A Khamnagadaev, G. E Gendlin, I. G Nikitin   +3 more
openaire   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Multipolar Left Ventricular Lead Implantation in a Unique Coronary Sinus: Direct Drainage of the Posterior Vein into the Right Atrium

Journal of Tehran University Heart Center, 2018
The coronary sinus, whose electrical features play an important role in cardiac arrhythmias, is the integral part of the cardiac venous system. Here we describe a 67-year-old male patient with congestive heart failure who was referred to our hospital ...
Ahmet Taha Alper, Mert İlker Hayıroğlu, Hakan Barutça, Ahmet İlker Tekkeşin, Ceyhan Türkkan   +4 more
doaj  

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Heart Atria Granularity Effects of Changes in Water-Electrolyte Balance

Experimental Biology and Medicine, 1979
SummaryAtrial granularity was measured using a new morphometric method in rats subjected to procedures known to alter water-electrolyte balance. It was found that water deprivation and sodium deficiency lead to atrial hypergranulation, whereas, the combined administration of desoxycorticosterone (2.5 mg/100 g body wt/day) and 2% NaCl in the drinking ...
openaire   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source